Canonical Allele Identifier: CA2956879
Gene: ADAMTS3 HGNC NCBI

Linked Data

dbSNP Id: rs141374503
gnomAD v2: 4-73179445-C-T
gnomAD v3: 4-72313728-C-T
gnomAD v4: 4-72313728-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313728C>T , CM000666.2:g.72313728C>T GRCh38
NC_000004.11:g.73179445C>T , CM000666.1:g.73179445C>T GRCh37
NC_000004.10:g.73398309C>T NCBI36
NG_046955.1:g.260072G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286657.10:c.1694G>A MANE Select ENSP00000286657.4:p.Arg565Gln
ENST00000286657.8:c.1694G>A ENSP00000286657.4:p.Arg565Gln
ENST00000622135.1:c.1694G>A ENSP00000480055.1:p.Arg565Gln
NM_014243.2:c.1694G>A NP_055058.2:p.Arg565Gln
XM_011532421.1:c.1637G>A XP_011530723.1:p.Arg546Gln
XM_011532422.1:c.1610G>A XP_011530724.1:p.Arg537Gln
XM_011532423.1:c.1052G>A XP_011530725.1:p.Arg351Gln
XM_011532424.1:c.962G>A XP_011530726.1:p.Arg321Gln
XM_011532421.2:c.1637G>A XP_011530723.1:p.Arg546Gln
XM_011532422.3:c.1610G>A XP_011530724.1:p.Arg537Gln
NM_014243.3:c.1694G>A MANE Select NP_055058.2:p.Arg565Gln